Phenotype

of age the risk factor for developing pancreatic cancer increases 40-fold (18). Computational models of PDAC that incorporate the number of somatic mutations, driver versus passenger events, and cellular proliferation as they acquire a cancerous phenotype, estimate that it takes an average of 11.7 years for initiating events that begin pancreatic carcinogenesis to develop into in situ cancer and a further 6.8 years for primary tumor to develop metastatic clones (19)(20). Once metastasis occurs…

2013; Gangemi F, 2013; Shumaker et al., 2005; Wiesel et al., 2008; Zwerger et al., 2013). It apparently leads to nuclear stability loss and inability to perform functions in its entirety. The mutations in LMNA lead to at least 10 clinically distinct phenotypes, termed laminopathies, affecting different tissues such as cardiac and skeletal muscle, cutaneous, nervous and adipose tissue. There is no explicit relation between syndrome development and the mutation domain localization. A number of hot…

Background Turner’s syndrome is a genetic disorder that occurs in 1 in every 2,500 female births. Though it occurs in about 3% of fetuses, 99% of these fetuses are spontaneously aborted[1]. Turner’s syndrome can be defined as a combination of phenotypes with varying expressivity along with the complete or partial loss of an X sex chromosome[2]. Symptoms of Turner’s syndrome include, but aren’t limited to short stature, glucose intolerance, broad chest and widely spread nipples, amenorrhea,…

Race is a socially constructed category created to differentiate groups based primarily on skin color, phenotype, ethnicity, and culture for the sole purpose of showing the superiority or dominance of one group over another. White people created race to justify slavery. The idea of race emerged in 17th & 18th century Europe with the growth colonialism and the Transatlantic Slave Trade. The term “Caucasian” comes from the Caucasus Mountains as they were thought to be the most physically…

Introduction Osteogenesis imperfecta describes a group of genetic disorders that are colloquially known as “brittle bone disease” and is estimated to affect around 7 out 100,000 people around the world. As the name suggests osteogenesis imperfecta is characterized by imperfect formation of the bones that leads to frequent fractures or breaks from minor trauma (Rauch et al., 2004). Depending on the severity of symptoms the impact to an affected individual 's life can differ. This paper will…

method called heat shock. Prokaryotic cells that have been artificially transformed by the foreign DNA can then be calculated for efficiency of transformation. pGLO plasmid was an excellent choice of foreign DNA, due to its ability to alter the phenotype of the prokaryotic cell. Green fluorescent protein (GPF gene) found in the plasmid must be exposed to arabinose, a sugar, in order to activate the GPF gene. If transformation occurred within the prokaryotic cell, the cell will fluoresce…

Common features of complex human diseases (for example Alzheimer’s disease, Crohn’s disease and cardiovascular diseases) are that they present mostly a relatively mild phenotype, are slowly progressive and chronic in nature.3 The patho-physiology of complex diseases is characterized by various biological pathways, leading to similar clinical phenomena. Importantly, complex diseases are associated with variations in multiple…

“There are murders and then there are ... hacking to death, trails of blood…I have not seen one like this,” said one of the investigators at the crime scene (Hagerty). In 2006, Bradley Waldroup brutally murdered his estranged wife’s friend and tried to kill his wife, using a machete and a shotgun to commit murder and mutilation. He was arrested for felony murder and attempted-first degree murder, a premeditated crime that would be sufficient to warrant the death penalty. Waldroup’s defense…

The subject these scientists are interested is the brain. They want to know whether the abnormal spindle gene (ASPM gene), important for encoding human homologue for spindle function, is responsible for an abnormal brain growth disorder (MCPH). They know that during primate evolution there has been a significant increase in brain growth, but are unaware of what causes this increase. The central nervous system is the only thing being affected by individuals whom have MCPH. To test their…

Canine Renal Dysplasia An autosomal-dominant disease characterized by delayed maturation of renal tissue. This leads to renal degeneration, protein-losing nephropathy and prolonged renal disease. A genetic predisposition is seen in the Bull terrier, Carin terrier and German Shepherd. Early onset of the disease is rare and is typically seen over the age of 5. The penetrance of Renal Dysplasia is low and small percentages are clinically affected. The percentage of fetal glomeruli…